Product Details

SNP ID
rs17292650
Assay Type
Functionally Tested
NCBI dbSNP Submissions
45
Location
Chr.1:43338136 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGGCATCAGACTCAGAGCCCCTGAA[G/T]TGTTTCTCCCGAACATTTGAGGACC
Phenotype
MIM: 159530
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
MPL PubMed Links

Gene Details

Gene
MPL
Gene Name
MPL proto-oncogene, thrombopoietin receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005373.2 162 Missense Mutation AAG,AAT K39N NP_005364.1
XM_017001320.1 162 Missense Mutation AAG,AAT K96N XP_016856809.1

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